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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-21277476-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=21277476&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 21277476,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000572914.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Gln93Gln",
"transcript": "NM_001376256.1",
"protein_id": "NP_001363185.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 314,
"cds_start": 279,
"cds_end": null,
"cds_length": 945,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": "ENST00000572914.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Gln93Gln",
"transcript": "ENST00000572914.2",
"protein_id": "ENSP00000461904.2",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 314,
"cds_start": 279,
"cds_end": null,
"cds_length": 945,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": "NM_001376256.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Gln93Gln",
"transcript": "ENST00000219599.8",
"protein_id": "ENSP00000219599.3",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 314,
"cds_start": 279,
"cds_end": null,
"cds_length": 945,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "n.279G>A",
"hgvs_p": null,
"transcript": "ENST00000574448.5",
"protein_id": "ENSP00000459982.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Gln93Gln",
"transcript": "NM_001888.5",
"protein_id": "NP_001879.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 314,
"cds_start": 279,
"cds_end": null,
"cds_length": 945,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Gln93Gln",
"transcript": "ENST00000543948.5",
"protein_id": "ENSP00000440227.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 314,
"cds_start": 279,
"cds_end": null,
"cds_length": 945,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gln51Gln",
"transcript": "ENST00000576703.5",
"protein_id": "ENSP00000460126.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 240,
"cds_start": 153,
"cds_end": null,
"cds_length": 724,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "n.246G>A",
"hgvs_p": null,
"transcript": "ENST00000571666.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"dbsnp": "rs876657446",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.43,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000572914.2",
"gene_symbol": "CRYM",
"hgnc_id": 2418,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Gln93Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}